Variant report

Variant	esv3312436
Chromosome Location	chr15:83169797-83214445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:83181094-83181867	GM12878	blood:	n/a	n/a
2	BATF	chr15:83182024-83182278	GM12878	blood:	n/a	n/a
3	BATF	chr15:83206289-83206581	GM12878	blood:	n/a	n/a
4	BATF	chr15:83199520-83199738	GM12878	blood:	n/a	n/a
5	BATF	chr15:83209109-83209373	GM12878	blood:	n/a	n/a
6	BATF	chr15:83206250-83206673	GM12878	blood:	n/a	n/a
7	BATF	chr15:83181297-83181619	GM12878	blood:	n/a	n/a
8	BATF	chr15:83194660-83194952	GM12878	blood:	n/a	n/a
9	BATF	chr15:83194668-83194970	GM12878	blood:	n/a	n/a
10	BATF	chr15:83171986-83172256	GM12878	blood:	n/a	n/a
11	BATF	chr15:83182516-83183551	GM12878	blood:	n/a	n/a
12	BATF	chr15:83180859-83181072	GM12878	blood:	n/a	n/a
13	BATF	chr15:83182960-83183552	GM12878	blood:	n/a	n/a
14	BATF	chr15:83188292-83188489	GM12878	blood:	n/a	n/a
15	BCL11A	chr15:83181340-83181641	GM12878	blood:	n/a	chr15:83181408-83181417
16	BCL11A	chr15:83209291-83209621	GM12878	blood:	n/a	chr15:83209296-83209304 chr15:83209322-83209331
17	BCL11A	chr15:83180872-83181314	GM12878	blood:	n/a	n/a
18	BCL11A	chr15:83181992-83182357	GM12878	blood:	n/a	chr15:83182244-83182257
19	BCL11A	chr15:83194669-83194854	GM12878	blood:	n/a	n/a
20	BCL11A	chr15:83182586-83183616	GM12878	blood:	n/a	chr15:83182682-83182690
21	BCL11A	chr15:83182491-83183483	GM12878	blood:	n/a	chr15:83182682-83182690
22	BCL11A	chr15:83188281-83188619	GM12878	blood:	n/a	n/a
23	BCL11A	chr15:83206251-83206625	GM12878	blood:	n/a	n/a
24	BCL11A	chr15:83180870-83181260	GM12878	blood:	n/a	n/a
25	BCL11A	chr15:83194575-83194922	GM12878	blood:	n/a	n/a
26	BCL11A	chr15:83209046-83209571	GM12878	blood:	n/a	chr15:83209296-83209304 chr15:83209322-83209331
27	BCL11A	chr15:83192024-83192235	GM12878	blood:	n/a	n/a
28	BCL11A	chr15:83204415-83204998	GM12878	blood:	n/a	chr15:83204860-83204868
29	BCL11A	chr15:83181264-83181632	GM12878	blood:	n/a	chr15:83181408-83181417
30	BHLHE40	chr15:83194668-83194935	HepG2	liver:	n/a	n/a
31	BHLHE40	chr15:83182634-83183177	HepG2	liver:	n/a	chr15:83182648-83182664
32	CBX3	chr15:83209135-83209602	K562	blood:	n/a	n/a
33	CBX3	chr15:83199278-83199821	K562	blood:	n/a	n/a
34	CBX3	chr15:83182641-83183089	K562	blood:	n/a	n/a
35	CEBPD	chr15:83209077-83209388	K562	blood:	n/a	n/a
36	CEBPD	chr15:83204723-83205200	K562	blood:	n/a	n/a
37	CTCF	chr15:83209166-83209463	Medullo	brain:	n/a	chr15:83209297-83209315 chr15:83209303-83209312 chr15:83209299-83209312 chr15:83209298-83209314 chr15:83209299-83209312 chr15:83209336-83209349 chr15:83209334-83209352 chr15:83209336-83209349 chr15:83209300-83209310
38	CTCF	chr15:83199329-83199903	NHEK	skin:	n/a	chr15:83199435-83199451 chr15:83199699-83199717 chr15:83199866-83199884 chr15:83199434-83199452 chr15:83199868-83199889 chr15:83199694-83199715 chr15:83199705-83199714 chr15:83199429-83199450 chr15:83199440-83199449
39	CTCF	chr15:83172066-83172208	HepG2	liver:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
40	CTCF	chr15:83212025-83212047	LNCaP	prostate:	n/a	n/a
41	CTCF	chr15:83182492-83183523	A549	lung:	n/a	n/a
42	CTCF	chr15:83209042-83209482	A549	lung:	n/a	chr15:83209297-83209315 chr15:83209303-83209312 chr15:83209299-83209312 chr15:83209298-83209314 chr15:83209299-83209312 chr15:83209336-83209349 chr15:83209334-83209352 chr15:83209336-83209349 chr15:83209300-83209310
43	CTCF	chr15:83209005-83209588	A549	lung:	n/a	chr15:83209297-83209315 chr15:83209303-83209312 chr15:83209299-83209312 chr15:83209298-83209314 chr15:83209299-83209312 chr15:83209336-83209349 chr15:83209334-83209352 chr15:83209336-83209349 chr15:83209300-83209310
44	CTCF	chr15:83199329-83199854	A549	lung:	n/a	chr15:83199435-83199451 chr15:83199699-83199717 chr15:83199434-83199452 chr15:83199694-83199715 chr15:83199705-83199714 chr15:83199429-83199450 chr15:83199440-83199449
45	CTCF	chr15:83172100-83172177	GM19239	blood:	n/a	chr15:83172123-83172141 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
46	CTCF	chr15:83194418-83195330	A549	lung:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780
47	CTCF	chr15:83172043-83172251	HUVEC	blood vessel:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
48	CTCF	chr15:83199338-83199848	Hela-S3	cervix:	n/a	chr15:83199435-83199451 chr15:83199699-83199717 chr15:83199434-83199452 chr15:83199694-83199715 chr15:83199705-83199714 chr15:83199429-83199450 chr15:83199440-83199449
49	CTCF	chr15:83199279-83199925	K562	blood:	n/a	chr15:83199435-83199451 chr15:83199699-83199717 chr15:83199866-83199884 chr15:83199434-83199452 chr15:83199868-83199889 chr15:83199694-83199715 chr15:83199705-83199714 chr15:83199429-83199450 chr15:83199440-83199449
50	CTCF	chr15:83194435-83195032	A549	lung:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83213257..83215653-chr15:83219949..83222640,2	K562	blood:
2	chr15:83212827..83216127-chr15:83234244..83236895,3	MCF-7	breast:

Variant related genes	Relation type
DNM1P42	TF binding region
ENSG00000261086	TF binding region
ENSG00000259472	TF binding region
RPS17L	TF binding region
GOLGA6L21P	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373657919	chr15:83183745-83183746	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs375516779	chr15:83183751-83183752	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs540013291	chr15:83183965-83183966	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs561536758	chr15:83183972-83183973	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs551793667	chr15:83183983-83183984	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs185018922	chr15:83183986-83183987	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs544476447	chr15:83183988-83183989	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs373364364	chr15:83184050-83184051	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs536686878	chr15:83188744-83188745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543245006	chr15:83189044-83189045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs548731247	chr15:83202978-83202979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568614747	chr15:83203075-83203076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537219387	chr15:83203079-83203080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199776148	chr15:83203220-83203221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs552503123	chr15:83213459-83213460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112189776	chr15:83213539-83213540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377761497	chr15:83213618-83213619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556161515	chr15:83213669-83213670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571015294	chr15:83213732-83213733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574468632	chr15:83213780-83213781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552548118	chr15:83213822-83213823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572545525	chr15:83213910-83213911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569283207	chr15:83213927-83213928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1267659	chr15:83213963-83213964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs553829444	chr15:83213981-83213982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141992894	chr15:83213990-83213991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544044667	chr15:83213998-83213999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557944326	chr15:83214005-83214006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150675773	chr15:83214006-83214007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540572387	chr15:83214086-83214087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545943128	chr15:83214102-83214103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559764736	chr15:83214117-83214118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1267658	chr15:83214154-83214155	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs111633922	chr15:83214240-83214241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542264628	chr15:83214281-83214282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192439632	chr15:83214284-83214285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562006065	chr15:83214303-83214304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112434122	chr15:83214306-83214307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139233730	chr15:83214345-83214346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112683758	chr15:83214351-83214352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142753880	chr15:83214398-83214399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72751631	chr15:83214422-83214423	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83212400-83214000	Weak transcription	Brain Angular Gyrus	brain
2	chr15:83212400-83214000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:83212400-83214000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:83212400-83214000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:83212600-83214200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:83212600-83214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:83212600-83214200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:83212600-83214200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:83212600-83214200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:83212600-83214200	Weak transcription	K562	blood
11	chr15:83213000-83215400	Weak transcription	Brain Substantia Nigra	brain
12	chr15:83213000-83217200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:83213200-83217400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:83213200-83220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:83213600-83218600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:83213800-83217400	Weak transcription	Aorta	Aorta
17	chr15:83214000-83216200	Strong transcription	Brain Angular Gyrus	brain
18	chr15:83214000-83216200	Strong transcription	Brain Anterior Caudate	brain
19	chr15:83214000-83216200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr15:83214000-83217200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:83214000-83217200	Weak transcription	Fetal Lung	lung
22	chr15:83214000-83224800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr15:83214200-83215800	Strong transcription	K562	blood
24	chr15:83214200-83216000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:83214200-83216000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:83214200-83216200	Strong transcription	Brain Hippocampus Middle	brain
27	chr15:83214200-83216200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr15:83214200-83216200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:83214200-83217600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:83214200-83222600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links